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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 22-17548949-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17548949&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 17548949,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001290047.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3662G>A",
"hgvs_p": "p.Ser1221Asn",
"transcript": "NM_001290047.2",
"protein_id": "NP_001276976.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3662,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3986,
"cdna_end": null,
"cdna_length": 10030,
"mane_select": "ENST00000262608.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3662G>A",
"hgvs_p": "p.Ser1221Asn",
"transcript": "ENST00000262608.13",
"protein_id": "ENSP00000262608.11",
"transcript_support_level": 1,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3662,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3986,
"cdna_end": null,
"cdna_length": 10030,
"mane_select": "NM_001290047.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Ser1057Asn",
"transcript": "ENST00000400585.7",
"protein_id": "ENSP00000383428.2",
"transcript_support_level": 1,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3608,
"cdna_end": null,
"cdna_length": 9652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3722G>A",
"hgvs_p": "p.Ser1241Asn",
"transcript": "ENST00000342247.10",
"protein_id": "ENSP00000341219.6",
"transcript_support_level": 5,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3722,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 10090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3596G>A",
"hgvs_p": "p.Ser1199Asn",
"transcript": "ENST00000612582.1",
"protein_id": "ENSP00000477529.1",
"transcript_support_level": 5,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3596,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 3603,
"cdna_end": null,
"cdna_length": 9645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Ser1057Asn",
"transcript": "NM_001290046.2",
"protein_id": "NP_001276975.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3608,
"cdna_end": null,
"cdna_length": 9652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Ser1220Asn",
"transcript": "XM_017028785.2",
"protein_id": "XP_016884274.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3659,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3983,
"cdna_end": null,
"cdna_length": 10027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3578G>A",
"hgvs_p": "p.Ser1193Asn",
"transcript": "XM_011546128.3",
"protein_id": "XP_011544430.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3578,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 9946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3578G>A",
"hgvs_p": "p.Ser1193Asn",
"transcript": "XM_011546129.3",
"protein_id": "XP_011544431.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3578,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 9946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3548G>A",
"hgvs_p": "p.Ser1183Asn",
"transcript": "XM_024452234.2",
"protein_id": "XP_024308002.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 9613,
"cdna_end": null,
"cdna_length": 15657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Ser1166Asn",
"transcript": "XM_011546132.3",
"protein_id": "XP_011544434.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1409,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4230,
"cdna_start": 3821,
"cdna_end": null,
"cdna_length": 9865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3494G>A",
"hgvs_p": "p.Ser1165Asn",
"transcript": "XM_047441341.1",
"protein_id": "XP_047297297.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3494,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 3818,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3413G>A",
"hgvs_p": "p.Ser1138Asn",
"transcript": "XM_047441342.1",
"protein_id": "XP_047297298.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3413,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3737,
"cdna_end": null,
"cdna_length": 9781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3413G>A",
"hgvs_p": "p.Ser1138Asn",
"transcript": "XM_047441343.1",
"protein_id": "XP_047297299.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3413,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3737,
"cdna_end": null,
"cdna_length": 9781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3299G>A",
"hgvs_p": "p.Ser1100Asn",
"transcript": "XM_047441344.1",
"protein_id": "XP_047297300.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3299,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 9363,
"cdna_end": null,
"cdna_length": 15407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.2156G>A",
"hgvs_p": "p.Ser719Asn",
"transcript": "XM_006724079.4",
"protein_id": "XP_006724142.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 962,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 8568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286195",
"gene_hgnc_id": null,
"hgvs_c": "n.102-2898C>T",
"hgvs_p": null,
"transcript": "ENST00000651475.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "n.-50G>A",
"hgvs_p": null,
"transcript": "ENST00000355219.4",
"protein_id": "ENSP00000347357.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"dbsnp": "rs527746223",
"frequency_reference_population": 0.00012392296,
"hom_count_reference_population": 2,
"allele_count_reference_population": 200,
"gnomad_exomes_af": 0.000121096,
"gnomad_genomes_af": 0.000151059,
"gnomad_exomes_ac": 177,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0067122578620910645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.1045,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.733,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001290047.2",
"gene_symbol": "CECR2",
"hgnc_id": 1840,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3662G>A",
"hgvs_p": "p.Ser1221Asn"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000651475.1",
"gene_symbol": "ENSG00000286195",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.102-2898C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}